{"Name":"Chronic mucocutaneous candidiasis","DiseaseID__c":"GARD:0001077","id":1077,"encodedName":"chronic-mucocutaneous-candidiasis","IsDeleted":false,"Disease_Name_Full__c":"Chronic mucocutaneous candidiasis","Xref_IDs__c":"234568006; C0006845; C34444; D002178; DOID:2058; HP:0002728; MEDGEN:2426; MONDO:0015279; OMIMPS:114580; ORPHA:1334","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:1334","Disease_Description__c":"A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen <i>Candida albicans</i>.","GARD_Name__c":"Chronic mucocutaneous candidiasis","GARD_Synonym__c":"candf; chronic candidiasis of mucosa, skin and nails; chronic mucocutaneous candidiasis (disease); cmc; cmc - chronic mucocutaneous candidiasis; familial candidiasis; familial cmc; mucocutaneous candidiasis","Curated_Disease_Description_Source__c":"ORPHA:1334","Curated_Disease_Description__c":"A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:1334","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015279","ORPHANET_ID__c":"ORPHA:1334","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Candidiasis crónica familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"candidiasis crónica familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare primary immunodeficiency characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.","Curated_Disease_Description_Source__c":"ORPHA:1334","GARD_Synonym__c":"candf; chronic candidiasis of mucosa, skin and nails; chronic mucocutaneous candidiasis (disease); cmc; cmc - chronic mucocutaneous candidiasis; familial candidiasis; familial cmc; mucocutaneous candidiasis","Name":"Chronic mucocutaneous candidiasis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1334"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1334"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859353"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001077","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2058","Source__c":"MONDO:0015279","Xref__c":"DOID:2058"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS114580","Source__c":"MONDO:0015279","Xref__c":"OMIMPS:114580"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002178","Source__c":"C0006845; MONDO:0015279","Xref__c":"D002178"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0006845","Source__c":"C0006845","Xref__c":"C0006845"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34444","Source__c":"C0006845; MONDO:0015279","Xref__c":"C34444"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234568006","Source__c":"C0006845; MONDO:0015279","Xref__c":"234568006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2426","Source__c":"C0006845","Xref__c":"MEDGEN:2426"},{"URL__c":"https://www.orpha.net/en/disease/detail/1334","Source__c":"C0006845; MONDO:0015279; ORPHA:1334","Xref__c":"ORPHA:1334"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015279","Source__c":"GARD:0001077","Xref__c":"MONDO:0015279"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002728","Source__c":"C0006845","Xref__c":"HP:0002728"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-candidiasis"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IL17F","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IL17RC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/il17rc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TRAF3IP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CLEC7A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IL17RA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000682","HPO_Synonym__c":"Abnormal tooth enamel; Abnormality of dental enamel; Enamel abnormalities; Enamel abnormality","HPO_Name__c":"Abnormal dental enamel morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008388","HPO_Synonym__c":"Abnormality of the toenail; Abnormality of the toenails","HPO_Name__c":"Abnormal toenail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000159","HPO_Synonym__c":"Abnormal lip; Abnormality of the lip; Lip abnormality","HPO_Name__c":"Abnormal lip morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000153","HPO_Synonym__c":"Abnormal mouth; Abnormality of the mouth","HPO_Name__c":"Abnormality of the mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or appearance of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001597","HPO_Synonym__c":"Abnormality of the nail","HPO_Name__c":"Abnormal nail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of temperature homeostasis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004370","HPO_Synonym__c":"Abnormality of temperature regulation; Impaired temperature control; Impaired temperature regulation; Inability to control temperature; Inability to regulate temperature; Poor control of temperature; Poor regulation of temperature; Poor temperature control; Poor temperature regulation; Unable to control temperature","HPO_Name__c":"Abnormality of temperature regulation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100825","HPO_Synonym__c":"Inflammation of the lips","HPO_Name__c":"Cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002105","HPO_Synonym__c":"Coughing up blood","HPO_Name__c":"Hemoptysis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000951","HPO_Synonym__c":"Abnormality of the skin; Dermatopathy; Dermopathy","HPO_Name__c":"Abnormality of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of eyesight (visual perception).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000504","HPO_Synonym__c":"Abnormality of sight; Abnormality of vision; Vision issue","HPO_Name__c":"Abnormality of vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the vagina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000142","HPO_Synonym__c":"Vaginal malformation","HPO_Name__c":"Abnormal vagina morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent genital pain associated with sexual intercourse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030016","HPO_Name__c":"Dyspareunia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the endocardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004306","HPO_Synonym__c":"Abnormality of the endocardium; Abnormality of the endomycoardium","HPO_Name__c":"Abnormal endocardium morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased width of nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001821","HPO_Synonym__c":"Broad fingernails; Broad nail; Wide fingernails","HPO_Name__c":"Broad nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002715","HPO_Synonym__c":"Abnormality of the immune system; Immunological abnormality","HPO_Name__c":"Abnormality of the immune system","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1334","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Immunology","Dermatology","Pediatrics"],"Account":["Dermatology","Primary Immune Deficiencies"]},"synonyms":["candf"," chronic candidiasis of mucosa, skin and nails"," chronic mucocutaneous candidiasis (disease)"," cmc"," cmc - chronic mucocutaneous candidiasis"," familial candidiasis"," familial cmc"," mucocutaneous candidiasis"]}